ASH2L — 67 ClinVar variants

All ClinVar germline ASH2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Likely pathogenic · 2 Likely benign · 64 Uncertain significance

Full ASH2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ASH2L p.Ile576Val Likely pathogenic Single submitter
intellectual disability

Predictors lean, ClinVar uncertain 46

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 11

The independent predictors disagree with each other — read with care.

All ASH2L variants

Likely pathogenic 1

p.Ile576Val Single submitter intellectual disability ⚠

Likely benign 2

p.Ala36Val Single submitter
p.Gln10Pro Single submitter

Uncertain significance 64

c.853+2dup Single submitter
p.Ala14Thr Single submitter ⚠
p.Ala2Thr Single submitter ⚠
p.Ala314Thr Single submitter ⚠
p.Ala375Thr Single submitter ⚠
p.Ala412Thr Single submitter ⚠
p.Ala435Thr Single submitter ⚠
p.Ala49Ser Single submitter ⚠
p.Ala4Glu Single submitter ⚠
p.Ala88Thr Single submitter ⚠
p.Ala99Val Single submitter ⚠
p.Arg181Gly Single submitter ⚠
p.Arg388Gln Single submitter ⚠
p.Arg417Trp Single submitter ⚠
p.Asn164Lys Single submitter ⚠
p.Asn491Ser Single submitter ⚠
p.Asp396Glu Single submitter
p.Asp90Val Single submitter ⚠
p.Cys362Ser Single submitter ⚠
p.Gln109His Single submitter ⚠
p.Glu356Lys Single submitter ⚠
p.Glu45Asp Single submitter ⚠
p.Glu59Lys Single submitter ⚠
p.Gly13Ser Single submitter ⚠
p.Gly26Glu Single submitter ⚠
p.Gly30Val Single submitter ⚠
p.Gly46Arg Single submitter ⚠
p.Gly72Ser Single submitter ⚠
p.His328fs Single submitter
p.His414Arg Single submitter ⚠
p.His475Arg Single submitter
p.Ile394Leu Single submitter
p.Ile472Thr Single submitter ⚠
p.Ile472Val Single submitter ⚠
p.Ile566Val Single submitter ⚠
p.Leu451Ser Single submitter ⚠
p.Leu611Phe Single submitter
p.Leu67Phe Single submitter ⚠
p.Lys253Thr Single submitter ⚠
p.Lys313Gln Single submitter ⚠
p.Lys464Asn Single submitter ⚠
p.Lys555Arg Single submitter ⚠
p.Met190Ile Single submitter ⚠
p.Pro138Ser Single submitter ⚠
p.Pro18Leu Single submitter ⚠
p.Pro350Leu Single submitter ⚠
p.Pro493Ser Single submitter ⚠
p.Pro537Ala Single submitter ⚠
p.Pro537Leu Single submitter ⚠
p.Pro55Ser Single submitter ⚠
p.Pro580Ser Single submitter ⚠
p.Pro585Leu Single submitter ⚠
p.Pro586Leu Single submitter ⚠
p.Ser262Gly Single submitter ⚠
p.Thr156Ile Single submitter ⚠
p.Thr311Ile Single submitter ⚠
p.Tyr584Cys Single submitter ⚠
p.Val113Ile Single submitter ⚠
p.Val149Ile Single submitter ⚠
p.Val224Ala Single submitter ⚠
p.Val35Ala Single submitter ⚠
p.Val401fs Single submitter
p.Val416Ile Single submitter ⚠
p.Val548Leu Single submitter ⚠